D117N (p.Asp117Asn) variant of F11 (Coagulation factor XI)
D117N (p.Asp117Asn) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of F11-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
D117N (p.Asp117Asn) variant details
- p.Asp117Asn
- cosmic curated COSV10635
- TOPMed rs1195858790
- gnomAD rs1195858790
- Uncertain significance
- F11-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.53
- MetaSVM -0.47
- CADD 9.95
- ClinVar: Uncertain significance (F11-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available